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Lilien Chertkoff

Observed names: Chertkoff, Lilien Patricia, L Chertkoff, L Dres Chertkoff, L P Chertkoff, L. Chertkoff, L. P. Chertkoff, L.P. Chertkoff, Lilien P. Chertkoff
OpenAlex ID: A5018607809
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
2013 · Catherine L. Bladen, Rachel Thompson, et al. · Journal of Neurology · 109
Clinical‐etiologic correlation in children with Prader‐Willi syndrome (PWS): An interdisciplinary study
2006 · Maria Torrado, Veronica Araoz, et al. · American Journal of Medical Genetics Part A · 81
Characterization of Alterations in Carbohydrate Metabolism in Children with Prader-Willi Syndrome
2006 · A.G. Krochik, B. Ozuna, et al. · Journal of Pediatric Endocrinology and Metabolism · 55
Thyroid axis dysfunction in patients with Prader‐Willi syndrome during the first 2 years of life
2010 · Elisa Vaiani, Viviana Herzovich, et al. · Clinical Endocrinology · 50
Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population
2007 · Luis Pablo Gravina, María Eugenia Foncuberta, et al. · International Journal of Pediatric Otorhinolaryngology · 33
Restriction fragment length polymorphism in HLA class II genes of Latin-American caucasian celiac disease patients
1989 · Mariana Herrera, Lilien Chertkoff, et al. · Human Immunology · 33
Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome
2013 · M. Torrado, M.E. Foncuberta, et al. · PEDIATRICS · 32
Genotype–phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina
2016 · Sofía Medrano, Soledad Monges, et al. · European Journal of Paediatric Neurology · 30
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Pharmacogenetic studies in children with acute lymphoblastic leukemia in Argentina
2014 · Hilda Verónica Aráoz, Karina D’Aloi, et al. · Leukemia & lymphoma/Leukemia and lymphoma · 29
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2
2009 · Luis Pablo Gravina, María Eugenia Foncuberta, et al. · International Journal of Pediatric Otorhinolaryngology · 28
Molecular characterization of HLA class II genes in celiac disease patients of Latin American caucasian origin
1994 · Mariana Herrera, Graciela Theiler, et al. · Tissue Antigens · 27
Complete nucleotide sequence of a genomic clone encoding HLA-B35 isolated from a Caucasian individual of hispanic origin identification of a new variant of HLA-B35
1991 · Lilien P. Chertkoff, Mariana Herrera, et al. · Human Immunology · 26
Complete screening of the CFTR gene in Argentine cystic fibrosis patients
2002 · A Visich, J Zielenski, et al. · Clinical Genetics · 25
Spectrum of CFTR mutations in Argentine cystic fibrosis patients
1997 · Lilien Chertkoff, Alejandra Visich, et al. · Clinical Genetics · 25
Influence of β2‐adrenoceptor polymorphisms on the response to chronic use of albuterol in asthmatic children
2008 · Verónica Giubergia, Luis Pablo Gravina, et al. · Pediatric Pulmonology · 24
Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients
2014 · Luis Pablo Gravina, Carolina Crespo, et al. · Journal of Cystic Fibrosis · 15
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HLA and celiac disease in Argentina: involvement of the DQ subregion.
1990 · E A Palavecino, A H Mota, et al. · PubMed · 15
Fragile X founder effects in Argentina
1998 · Gustavo Bonaventure, Maria Torrado, et al. · American Journal of Medical Genetics · 13
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Influence of β2-adrenergic receptor polymorphisms on asthma exacerbation in children with severe asthma regularly receiving salmeterol
2013 · Verónica Giubergia, Luis Gravina, et al. · Annals of Allergy Asthma & Immunology · 12
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Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele
2020 · Carolina Crespo, Hernán Eiroa, et al. · Molecular Genetics and Metabolism Reports · 11
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High specificity of head circumference to recognize N540K mutation in hypochondroplasia
2005 · Virginia Fano, Luis Pablo Gravina, et al. · Annals of Human Biology · 11
DNA polymorphism of the HLA-B35 gene associated to different HLA-C locus alleles
1988 · Lilien P. Chertkoff, Mariana Herrera, et al. · Human Immunology · 10
Síndrome de Angelman: Características electroclínicas en 35 pacientes
2003 · Ricardo Cersósimo, Roberto Horacio Caraballo, et al. · Revista de Neurología · 9
Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients
1996 · Thierry Bienvenu, Lilien Chertkoff, et al. · Human Mutation · 8
Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients
2020 · Matias Juanes, Gabriel Veneruzzo, et al. · Epilepsy & Behavior · 7
Works count: 57
Citation count: 754
H-index: 15
I10-index: 22
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